MCID: LMT001
MIFTS: 48

Limited Scleroderma

Categories: Bone diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Limited Scleroderma

MalaCards integrated aliases for Limited Scleroderma:

Name: Limited Scleroderma 12 15 17
Limited Cutaneous Systemic Sclerosis 12 53 59
Systemic Sclerosis Sine Scleroderma 53 59 72
Limited Cutaneous Systemic Scleroderma 53 59
Limited Systemic Sclerosis 53 59
Scleroderma, Limited 44 72
Progressive Systemic Sclerosis Sine Scleroderma 53
Systemic Sclerosis, Limited 12
Scleroderma, Sine 53
Crest Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
limited cutaneous systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;
limited systemic sclerosis
Inheritance: Not applicable; Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:1577
MeSH 44 D045745
ICD10 via Orphanet 34 M34.0 M34.1
UMLS 72 C0206138 C0748540 C1290138

Summaries for Limited Scleroderma

NIH Rare Diseases : 53 Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual.

MalaCards based summary : Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to crest syndrome and systemic scleroderma. An important gene associated with Limited Scleroderma is CAV1 (Caveolin 1), and among its related pathways/superpathways are NF-kappaB Signaling and Immune response IFN alpha/beta signaling pathway. The drugs Lidocaine and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are hypopigmented skin patches and autoimmunity

Related Diseases for Limited Scleroderma

Diseases related to Limited Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 crest syndrome 32.8 UBTF TOP1 CENPB
2 systemic scleroderma 30.4 TOP1 SNRNP70 CENPB CENPA CCN2
3 diffuse scleroderma 30.1 TOP1 PYHIN1 MNDA
4 autoimmune disease 30.1 IRF5 IL2RA IL2 HLA-DRB1
5 rheumatic disease 29.9 TOP1 IL2RA HLA-DRB1 CENPB CENPA
6 diffuse cutaneous systemic sclerosis 29.5 IRF5 IFI16 HLA-DRB1 CCR6 CCN2 CAV1
7 connective tissue disease 29.4 TOP1 SNRNP70 HLA-DRB1 CENPC CENPB CCN2
8 collagen disease 29.2 TOP1 SNRNP70 CENPB CENPA CCN2
9 systemic lupus erythematosus 29.0 SNRNP70 KIAA0319L IRF5 IL2RA IL2 HLA-DRB1
10 reynolds syndrome 11.5
11 telangiectasia, hereditary hemorrhagic, type 4 11.3
12 rheumatoid factor-negative juvenile idiopathic arthritis 10.5 IL2RA HLA-DRB1
13 pure red-cell aplasia 10.4 IL2RA IL2 HLA-DRB1
14 mumps 10.4 IL2RA IL2 HLA-DRB1
15 recurrent respiratory papillomatosis 10.4 IL2 HLA-DRB1
16 dysphagia 10.3
17 dyskinesia of esophagus 10.3 UBTF TOP1 CENPB
18 scleroderma, familial progressive 10.3
19 berylliosis 10.3 IL2 HLA-DRB1
20 sarcoidosis 1 10.3 IL2RA IL2 HLA-DRB1
21 nephrotic syndrome 10.3
22 renal tubular acidosis 10.3
23 raynaud phenomenon 10.2
24 pulmonary hypertension, primary, 1 10.2
25 cervicitis 10.1 IL2RA IL2
26 fibrosis of extraocular muscles, congenital, 1 10.1
27 dowling-degos disease 1 10.1
28 visual epilepsy 10.1
29 seizure disorder 10.1
30 hemopericardium 10.1
31 pericardial effusion 10.1
32 pulmonary hypertension 10.1
33 progressive familial heart block, type ia 10.1
34 cardiac arrhythmia 10.1
35 retinitis pigmentosa 9 10.1
36 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1
37 wolff-parkinson-white syndrome 10.1
38 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
39 bone resorption disease 10.1
40 left bundle branch hemiblock 10.1
41 pyloric stenosis 10.1
42 dilated cardiomyopathy 10.1
43 uveitis 10.1
44 pulmonary systemic sclerosis 10.1
45 thrombocytopenia 10.1
46 synovitis 10.1
47 antiphospholipid syndrome 10.1
48 intestinal pseudo-obstruction 10.1
49 kidney disease 10.1
50 juvenile rheumatoid arthritis 10.1

Graphical network of the top 20 diseases related to Limited Scleroderma:



Diseases related to Limited Scleroderma

Symptoms & Phenotypes for Limited Scleroderma

Human phenotypes related to Limited Scleroderma:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
2 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
3 narrow foramen obturatorium 59 32 hallmark (90%) Very frequent (99-80%) HP:0100958
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
6 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
7 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
8 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
9 mucosal telangiectasiae 59 32 frequent (33%) Frequent (79-30%) HP:0100579
10 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
11 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
12 contractures involving the joints of the feet 59 32 occasional (7.5%) Occasional (29-5%) HP:0008366
13 joint contracture of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009473
14 abnormality of skin pigmentation 59 Very frequent (99-80%)
15 abnormality of the skin 59 Very frequent (99-80%)

Drugs & Therapeutics for Limited Scleroderma

Drugs for Limited Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
2
Sodium citrate Approved, Investigational Phase 3 68-04-2
3
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
4
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
5
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
6 Sodium Channel Blockers Phase 2, Phase 3
7 Diuretics, Potassium Sparing Phase 2, Phase 3
8 Pharmaceutical Solutions Phase 2, Phase 3
9 Anti-Arrhythmia Agents Phase 2, Phase 3
10 Vasodilator Agents Phase 3
11 Sildenafil Citrate Phase 3 171599-83-0
12 Citrate Phase 3
13 Phosphodiesterase Inhibitors Phase 3
14 Chelating Agents Phase 3
15 Phosphodiesterase 5 Inhibitors Phase 3
16 Anticoagulants Phase 3
17 Calcium, Dietary Phase 3
18 Anesthetics, Local Phase 2, Phase 3
19 Central Nervous System Depressants Phase 2, Phase 3
20 Anesthetics Phase 2, Phase 3
21 Peripheral Nervous System Agents Phase 2, Phase 3
22
Treprostinil Approved, Investigational Phase 2 81846-19-7 6918140 54786
23 Tezosentan Investigational Phase 2 180384-57-0
24 Ifetroban Investigational Phase 2 143443-90-7
25 Antihypertensive Agents Phase 2
26 Platelet Aggregation Inhibitors Phase 2
27
Epinephrine Approved, Vet_approved 51-43-4 5816
28
Racepinephrine Approved 329-65-7 838
29
Ropivacaine Approved 84057-95-4 71273 175805
30
Nitric Oxide Approved 10102-43-9 145068
31 Hormones
32 Analgesics
33 Epinephryl borate
34 Analgesics, Opioid
35 Neurotransmitter Agents
36 Respiratory System Agents
37 Antioxidants
38 Free Radical Scavengers
39 Protective Agents
40 Autonomic Agents
41 Endothelium-Dependent Relaxing Factors
42 Anti-Asthmatic Agents
43 Bronchodilator Agents

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
2 Effect of Sildenafil on the Microcirculatory Blood Flow and on the Endothelial Progenitor Cells in Patients With Systemic Sclerosis: a Randomized, Double-blind, Placebo-controlled Clinical Trial Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
3 Chemical Sympathectomy Following Peripheral Nerve Block With Liposomal Bupivacaine Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
4 DISTOL-1: Digital Ischemic Lesions in Scleroderma Treated With Oral Treprostinil Diethanolamine: A Randomized, Double-blind, Placebo-controlled, Multicenter Study Completed NCT00775463 Phase 2 treprostinil diethanolamine;placebo
5 Open Label Extension (OLE) for the Patients Treated in the ISD002-P144-07 Study With P144 Topical Adminsitration for Skin Fibrosis in Patients With Systemic Sclerosis Completed NCT00781053 Phase 2 P144 cream
6 Phase II, Multicenter, Randomized, Double-blind, Intraindividually Placebo Controlled Clinical Trial, to Evaluate Efficacy and Safety of p144 Topical Administration for Skin Fibrosis in Patients With Systemic Sclerosis Completed NCT00574613 Phase 2 P144;placebo
7 A Phase 2, Randomized, Placebo-controlled, Double-blind, Open-label Extension Multicenter Study to Evaluate the Efficacy and Safety of KD025 in Subjects With Diffuse Cutaneous Systemic Sclerosis Recruiting NCT03919799 Phase 2 KD025;Placebo
8 A Phase 2 Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Efficacy of Ifetroban in Patients With Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension (SSc-PAH) Recruiting NCT02682511 Phase 2 Oral Ifetroban;Oral Placebo
9 Multicentre, Placebo-Controlled, Multi-Dosis, Phase I Clinical Trial to Evaluate the Tolerability and Bioavailability of TGF β1 Inhibitor Peptide 144 After Topical Administration in Healthy Volunteers. Completed NCT00656825 Phase 1 P144 cream;P144 cream;P144 cream;Placebo
10 A Phase I Study of the Safety and Feasibility of Central Intravenous Delivery of Allogeneic Human Cardiosphere-Derived Stem Cells in Patients With Pulmonary Arterial Hypertension ALPHA Trial Recruiting NCT03145298 Phase 1
11 Phase I Trial of High Dose Rate Brachytherapy Combined With Stereotactic Body Radiation Therapy for Intermediate Risk Prostate Cancer Patients Active, not recruiting NCT01655836 Phase 1
12 Comparative Clinical Study of the Prevention of the Reduction of Alveolar Crest by Alveoli Filling With an Injectable Calcium Phosphate After Extraction of Mandibular Molar or Pre Molar Unknown status NCT00740311
13 A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma Completed NCT01881529
14 A Multicenter, Prospective Cohort Study Using Nailfold VideoCAPillaroscopy(NVC) and Other Factors to Determine the Risk of Developing Digital Ulceration in Patients With Systemic Sclerosis (SSc) Completed NCT01377090
15 The Analgesic Efficacy of the Transversalis Fascia Plane Block in Iliac Crest Bone Graft Harvesting Completed NCT01133730 Active treatment;Placebo Arm
16 A Prospective Pilot Study on the Performance of The Plexur P™ Bone Void Filler Completed NCT00837473
17 Metabolomic Analysis of Systemic Sclerosis Recruiting NCT02298777
18 Identification of Transient Receptor Potential (TRP) Channels as New Potential Therapeutic Targets in Primary and Secondary Raynaud's Phenomenon. Recruiting NCT03211325
19 A Systematic Review of Factors Associated With Pulmonary Arterial Hypertension in Systemic Sclerosis Active, not recruiting NCT03889509
20 Localized Effects of Photobiomodulation and Exogenous Nitric Oxide on CREST Patients Calcinosis Cutis & Raynaud Phenomenon Not yet recruiting NCT03972566 INOMAX
21 A Multicenter, Prospective, Longitudinal Study to Evaluate Gastrointestinal Function and Clinical and Molecular Biomarkers in Subjects With Early and Late Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis, and Healthy Volunteers Withdrawn NCT02531009

Search NIH Clinical Center for Limited Scleroderma

Cochrane evidence based reviews: scleroderma, limited

Genetic Tests for Limited Scleroderma

Anatomical Context for Limited Scleroderma

MalaCards organs/tissues related to Limited Scleroderma:

41
Skin, Bone, Lung, Endothelial, Prostate, Thyroid, T Cells

Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show top 50) (show all 217)
# Title Authors PMID Year
1
Periostin is induced by IL-4/IL-13 in dermal fibroblasts and promotes RhoA/ROCK pathway-mediated TGF-β1 secretion in abnormal scar formation. 38
31066603 2019
2
Pulmonary hypertension in Spanish patients with systemic sclerosis. Data from the RESCLE registry. 38
30535994 2019
3
Involvement of Periostin in Skin Function and the Pathogenesis of Skin Diseases. 38
31037628 2019
4
Connective Tissue Disease: Current Concepts. 38
30466687 2019
5
Comparing ultraviolet light A photo(chemo)therapy with Methotrexate protocol in childhood localized scleroderma: Evidence from systematic review and meta-analysis approach. 38
29655520 2018
6
Anti-RO 52-positive systemic sclerosis sine scleroderma with multisystem involvement and recurrent vasculitis. 38
30073982 2018
7
Autoantibodies and scleroderma phenotype define subgroups at high-risk and low-risk for cancer. 38
29678941 2018
8
Improving life expectancy of patients with scleroderma: results from the South Australian Scleroderma Register. 38
29573101 2018
9
Systemic Sclerosis Sine Scleroderma in Mexican Patients. Case Reports. 38
28065485 2018
10
[RHEOLOGICAL PROPERTIES OF BLOOD SERUM AT SYSTEMIC SCLEROSIS]. 38
29697389 2018
11
Assessing the response of morphea and limited scleroderma to tranilast: a small prospective study comparing topical corticosteroids to a combination of topical corticosteroids and tranilast. 38
30013378 2018
12
Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. 38
29308290 2017
13
Periostin in the pathogenesis of skin diseases. 38
28916993 2017
14
The evaluation of a home-based program for hands in patients with systemic sclerosis. 38
29198478 2017
15
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). 38
27353193 2017
16
Choroidal and central foveal thickness in patients with scleroderma and its systemic associations. 38
27864836 2017
17
[Research of systemic sclerosis sine scleroderma]. 38
28870043 2017
18
Systemic sclerosis sine scleroderma. 38
29068586 2017
19
The Therapeutic Efficacy of Botulinum Toxin in Treating Scleroderma-Associated Raynaud's Phenomenon: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial. 38
28426903 2017
20
Scleroderma Induced by Pembrolizumab: A Case Series. 38
28599746 2017
21
Replacing a phosphodiesterase-5 inhibitor with riociguat in patients with connective tissue disease-associated pulmonary arterial hypertension: a case series. 38
28671485 2017
22
Anterior ST-elevation myocardial infarction induced by rituximab infusion: A case report and review of the literature. 38
28440561 2017
23
Successful long-term (22 year) treatment of limited scleroderma using therapeutic plasma exchange: Is blood rheology the key? 38
27340761 2017
24
Survival protection by bodyweight in isolated scleroderma-related pulmonary artery hypertension. 38
27052360 2016
25
Comparison of the clinical utility of the Elia CTD Screen to indirect immunofluorescence on Hep-2 cells. 38
26677892 2016
26
Anti-Interferon-Inducible Protein 16 Antibodies Associate With Digital Gangrene in Patients With Scleroderma. 38
26714268 2016
27
Fibrillary glomerulonephritis associated with limited scleroderma: a case report. 38
26709524 2016
28
Systemic sclerosis - a multi-purpose use of ultrasound: Editorial comment on: G. Pracoń, M. Płaza, M. Walentowska-Janowicz, I. Sudoł-Szopińska The value of ultrasound in the diagnosis of limited scleroderma - a case report. 38
27104009 2016
29
Polymyositis and the Spectrum of Scleroderma Disorders. 38
30755854 2016
30
Development of systemic sclerosis in patients with autoimmune hepatitis: an emerging overlap syndrome. 38
27458514 2016
31
A Unique Presentation of Anti-RNA Polymerase III Positive Systemic Sclerosis Sine Scleroderma. 38
27559487 2016
32
The value of ultrasound in the diagnosis of limited scleroderma - a case report. 38
26675049 2015
33
Pilot study to determine whether transient receptor potential melastatin type 8 (TRPM8) antibodies are detected in scleroderma. 38
26242276 2015
34
Multiple intracerebral hemorrhages in a patient with systemic sclerosis sine scleroderma. 38
24993862 2015
35
Systemic sclerosis sine scleroderma: a case report of anterior uveitis. 38
26150271 2015
36
[Autoantibodies in systemic sclerosis and their clinical correlation in patients from a Midwestern region of Brazil]. 38
25559063 2015
37
Osteonecrosis of multiple joints in a patient with limited scleroderma/CREST syndrome. 38
25807102 2015
38
[Usefulness of gastric emptying scintigraphy for the evaluation and management of scleroderma related gastroparesis]. 38
26076515 2015
39
Digital Ulcers, Systemic Sclerosis Sine Scleroderma and Paraneoplastic Phenomena Responding to Bosentan Therapy. 38
26223094 2015
40
Systemic Sclerosis Sine Scleroderma. 38
26259425 2014
41
Systemic sclerosis sine scleroderma: a multicenter study of 1417 subjects. 38
25274885 2014
42
Systemic sclerosis sine scleroderma and limited cutaneous systemic sclerosis: similarities and differences. 38
24776173 2014
43
[Diffuse interstitial pneumonia revealing systemic sclerosis sine scleroderma]. 38
25775296 2014
44
Improved survival in limited scleroderma-related pulmonary artery hypertension. 38
23361526 2014
45
A case of sine scleroderma with parenchymal lung disease. 38
24627847 2014
46
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. 38
25393970 2014
47
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. 38
23656799 2013
48
Systemic sclerosis sine scleroderma: distinct features in a large Brazilian cohort. 38
23661427 2013
49
Scleroderma: nomenclature, etiology, pathogenesis, prognosis, and treatments: facts and controversies. 38
23806160 2013
50
Freezing fingers syndrome, primary and secondary Raynaud's phenomenon: characteristic features with hand thermography. 38
23314682 2013

Variations for Limited Scleroderma

Expression for Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for Limited Scleroderma

GO Terms for Limited Scleroderma

Cellular components related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.65 TOP1 CENPS CENPC CENPB CENPA
2 kinetochore GO:0000776 9.58 CENPS CENPC CENPA
3 condensed chromosome kinetochore GO:0000777 9.54 CENPS CENPC CENPA
4 chromosome, centromeric region GO:0000775 9.46 CENPS CENPC CENPB CENPA
5 condensed nuclear chromosome kinetochore GO:0000778 9.32 CENPC CENPA
6 condensed nuclear chromosome, centromeric region GO:0000780 9.13 CENPC CENPB CENPA
7 nuclear pericentric heterochromatin GO:0031618 8.8 CENPC CENPB CENPA

Biological processes related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.83 IRF5 IL2RA IL2 IFI16 HLA-DRB1
2 positive regulation of T cell differentiation GO:0045582 9.46 IL2RA IL2
3 regulation of regulatory T cell differentiation GO:0045589 9.4 IL2RA IL2
4 inflammatory response to antigenic stimulus GO:0002437 9.37 IL2RA HLA-DRB1
5 CENP-A containing nucleosome assembly GO:0034080 9.33 CENPS CENPC CENPA
6 interleukin-2-mediated signaling pathway GO:0038110 9.32 IL2RA IL2
7 negative regulation of lymphocyte proliferation GO:0050672 9.26 IL2RA IL2
8 regulation of T cell homeostatic proliferation GO:0046013 8.96 IL2RA IL2
9 kinetochore assembly GO:0051382 8.8 CENPS CENPC CENPA

Molecular functions related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.55 UBTF TOP1 CENPS CENPB CENPA
2 double-stranded DNA binding GO:0003690 9.43 TOP1 IFI16 CENPS
3 DNA binding GO:0003677 9.32 UBTF TOP1 SCRT2 MNDA IRF5 IFI16
4 centromeric DNA binding GO:0019237 8.96 CENPC CENPB

Sources for Limited Scleroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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